Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.810 | 1.000 | 13 | 2002 | 2014 | |||
|
2 | 0.925 | 0.120 | 11 | 66515586 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 0.800 | 1.000 | 13 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 66530973 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2011 | |||
|
1 | 1.000 | 0.120 | 11 | 66515549 | missense variant | G/A | snv | 2.9E-04 | 7.0E-05 | 0.700 | 1.000 | 8 | 2002 | 2011 | |||
|
1 | 1.000 | 0.120 | 11 | 66519725 | missense variant | G/A | snv | 7.7E-03 | 3.1E-02 | 0.700 | 1.000 | 8 | 2002 | 2011 | |||
|
1 | 1.000 | 0.120 | 11 | 66511069 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 66530928 | missense variant | T/A | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 66526753 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 5 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 66526786 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 11 | 66511090 | splice donor variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 66514469 | frameshift variant | CT/- | del | 0.700 | 1.000 | 2 | 2003 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 66523496 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 66531685 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.120 | 11 | 66523577 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2012 | ||||
|
11 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 66515692 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 15 | 89645894 | missense variant | T/C;G | snv | 6.8E-05; 2.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 66514590 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.280 | 8 | 93786287 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 20 | 10413396 | stop gained | G/C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 66515732 | splice donor variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 66511010 | splice region variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 66523784 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 66521331 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 66523751 | frameshift variant | C/- | delins | 0.700 | 0 |